A global effort to make genetic studies more diverse has led to a discovery about Parkinson’s disease, a common brain disorder that can impair a person’s ability to move and speak.
A team that included scientists from Lagos, London and the U.S. found a previously unknown gene variant that can nearly quadruple the risk of Parkinson’s for people of African ancestry.
The finding, published in August in The Lancet Neurology, suggests that Parkinson’s may work differently in people of African, rather than European, descent. It could eventually help scientists develop a treatment specifically for people with this particular gene variant.
It also shows why including typically underrepresented populations in genetics studies “should really be the rule and not the exception,” says Ekemini Riley, managing director of Aligning Science Across Parkinson’s, a research initiative that helped coordinate the effort.
The discovery was made possible by a coalition of scientists dissatisfied with the way most genetic studies are conducted.
“Our basis of knowledge for genetics in Parkinson’s disease was limited to Northern European populations,” says Andy Singleton, who directs the Center for Alzheimer’s and Related Dementias at the National Institutes of Health.
Studies of European descendants have revealed several gene variants associated with Parkinson’s. But many other variants have probably been missed, Singleton says, because they occur in people with genetic backgrounds that haven’t been studied.
“So we decided to diversify that endeavor,” he says.
To do that, the NIH joined the Global Parkinson’s Genetics Program, which includes researchers from around the world. The goal: collect and analyze genetic samples from a diverse group of more than 150,000 people.
The first step was to make sure that members who were helping to collect DNA samples would benefit from the effort, says Sara Bandrés Ciga, a molecular geneticist at the NIH.
“For a project to succeed we have to always…
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